A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17552287



Internal ID21876642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48318160..48322353hg38UCSC Ensembl
chr3:48359650..48363843hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384194
hg194194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5993491
Supporting Variants
Samples
Known GenesSPINK8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17552287
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer